Cathalifaud Daniel, Manríquez Jean-Paul, Rodríguez Benjamín, Eymin Gonzalo, Sanfuentes Benjamín, Castellano Joel, Valenzuela Andrés
Escuela de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile.
Facultad de Ciencias de la Salud, Universidad Bernardo O'Higgins, Santiago, Chile.
Medwave. 2025 Jul 21;25(6):e3002. doi: 10.5867/medwave.2025.06.3002.
Since the first description of Thrombotic Thrombocytopenic Purpura, caused by a severe deficiency of ADAMTS13, plasma exchange and immunosuppression have become standard treatments, allowing to decrease its high mortality rate. Prospective records of Thrombotic Thrombocytopenic Purpura have provided valuable information on its pathophysiology, clinical presentation, and outcomes. The objective of this study is to update the local Chilean experience in the diagnosis and management of this disease, through a case series of patients treated between 2017 and 2022.
Case series study that included patients over 18 years old diagnosed with Thrombotic Thrombocytopenic Purpura, treated between June 2017 and August 2022 at Hospital Clínico UC Christus. Information was collected from clinical records, which were used for cohort description and statistical analysis. Accepted definitions from the literature were used to describe the outcomes. The study was approved by the local ethics committee (ID 220524001).
Our series had higher age and prevalence of comorbidities compared to those reported in the literature. The most important clinical manifestations included constitutional, gastrointestinal, hemorrhagic, and neurological symptoms, with different presentation frequencies than those described internationally. We found a lower capacity of the PLASMIC Score for the detection of Thrombotic Thrombocytopenic Purpura in our series. The predominant therapeutic strategy was a combination of glucocorticoids and plasma exchange (61% of the patients). There was a high mortality rate (56.5%) and adverse events related to plasma exchange, especially of infections related to its use.
This study highlights the diagnostic and therapeutic challenges of Thrombotic Thrombocytopenic Purpura in the local context and the need to improve our management strategies through standardizing care and better application of clinical guidelines to reduce the high mortality rate in these patients.
自首次描述由ADAMTS13严重缺乏引起的血栓性血小板减少性紫癜以来，血浆置换和免疫抑制已成为标准治疗方法，从而降低了其高死亡率。血栓性血小板减少性紫癜的前瞻性记录为其病理生理学、临床表现和预后提供了有价值的信息。本研究的目的是通过2017年至2022年期间治疗的一系列病例，更新智利当地在该疾病诊断和管理方面的经验。
病例系列研究，纳入2017年6月至2022年8月在智利大学克里斯图斯临床医院接受治疗的18岁以上诊断为血栓性血小板减少性紫癜的患者。从临床记录中收集信息，用于队列描述和统计分析。采用文献中公认的定义来描述预后。该研究获得当地伦理委员会批准（编号220524001）。
与文献报道相比，我们的系列病例年龄更大，合并症患病率更高。最重要的临床表现包括全身症状、胃肠道症状、出血症状和神经症状，其出现频率与国际上描述的不同。我们发现PLASMIC评分在我们的系列病例中检测血栓性血小板减少性紫癜的能力较低。主要治疗策略是糖皮质激素和血浆置换联合使用（61%的患者）。死亡率较高（56.5%），且存在与血浆置换相关的不良事件，尤其是与使用血浆置换相关的感染。
本研究强调了当地背景下血栓性血小板减少性紫癜的诊断和治疗挑战，以及通过规范治疗和更好地应用临床指南来改善我们的管理策略以降低这些患者高死亡率的必要性。
